Published April 16, 2023 | Version 1.3.0
Software Open

ga4gh/vrs: 1.3.0 Release: Genotype, Copy Changes, and Composed SEs

  • 1. Nationwide Children's Hospital
  • 2. Nationwide Children's Hospital - IGM
  • 3. University of Zürich, Swiss Institute of Bioinformatics and @ga4gh
  • 4. NCBI
  • 5. TAJ Technologies (Contract with National Center for Biotechnology Information)
  • 6. Jackson Laboratory for Genomic Medicine
  • 7. UC Santa Cruz Genomics Institute

Description

Release summary

The v1.3.0 release of VRS includes two new systemic variation concepts:

  1. the Genotype model for representing all variants present at a given genomic locus
  2. the CopyNumberChange model for representing copy number changes from a regional base ploidy

It also includes support for composed sequence expressions, for expressing sequences composed of multiple underlying expressions.

Additional minor changes include cleanup of the allele normalization guidance, haplotype member minimum, and updates to the processing tools (i.e. gks.metaschema) used to build and represent the schema artifacts. This has also enabled explicity class inheritance and explicit declaration of array ordinality for processing computed digests.

What's Changed New Contributors

Full Changelog: https://github.com/ga4gh/vrs/compare/1.2.1...1.3.0

Files

ga4gh/vrs-1.3.0.zip

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